RHO, rhodopsin, 6010

N. diseases: 178; N. variants: 71
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs142285818
rs142285818
0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04
CUI: C0456909
Disease: Blindness
Blindness
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104893768
rs104893768
0.807 0.080 3 129528801 missense variant C/A snv
CUI: C0456909
Disease: Blindness
Blindness
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018